scholarly journals The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Danilo Cimadomo ◽  
Antonio Capalbo ◽  
Filippo Maria Ubaldi ◽  
Catello Scarica ◽  
Antonio Palagiano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Negative Impact ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Embryo Biopsy ◽  
Human Embryos ◽  
Developmental Potential ◽  
Monogenic Diseases ◽  
The Impact

Preimplantation Genetic Diagnosis and Screening (PGD/PGS) for monogenic diseases and/or numerical/structural chromosomal abnormalities is a tool for embryo testing aimed at identifying nonaffected and/or euploid embryos in a cohort produced during an IVF cycle. A critical aspect of this technology is the potential detrimental effect that the biopsy itself can have upon the embryo. Different embryo biopsy strategies have been proposed. Cleavage stage blastomere biopsy still represents the most commonly used method in Europe nowadays, although this approach has been shown to have a negative impact on embryo viability and implantation potential. Polar body biopsy has been proposed as an alternative to embryo biopsy especially for aneuploidy testing. However, to date no sufficiently powered study has clarified the impact of this procedure on embryo reproductive competence. Blastocyst stage biopsy represents nowadays the safest approach not to impact embryo implantation potential. For this reason, as well as for the evidences of a higher consistency of the molecular analysis when performed on trophectoderm cells, blastocyst biopsy implementation is gradually increasing worldwide. The aim of this review is to present the evidences published to date on the impact of the biopsy at different stages of preimplantation development upon human embryos reproductive potential.

scholarly journals La diagnosi pre-impiantatoria Lo stato dell’arte scientifico e gli interrogativi etici - Parte I

2007 ◽  
Vol 56 (3) ◽  
Author(s):  
Jacques Suaudeau
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Late Onset ◽  
Genetic Diseases ◽  
Genetic Defect ◽  
Genetic Diagnosis ◽  
Human Embryos ◽  
The Social ◽  
Selection Of

La diagnosi genetica pre-impiantatoria (Preimplantation genetic diagnosis o PGD) è una tecnica nella quale gli embrioni umani prodotti in vitro per le tecniche di fecondazione artificiale, vengono selezionati, nelle prime fasi di sviluppo, dal punto di vista genetico, tramite lo studio di uno o due blastomeri prelevati con una biopsia. Gli embrioni non affetti da malattie vengono poi trasferiti nell’utero. La PGD è stata introdotta agli inizi degli anni ’90 in alternativa alla diagnosi prenatale per coppie per le quali fosse alto il rischio di trasmettere un difetto genetico. Negli anni successivi è stata adoperata per altre indicazioni come l’individuazione delle anomalie cromosomiche, la ricerca delle aneuploidie, la selezione “sociale” del sesso, la selezione degli embrioni secondo il tipo di Human Leukocit Antigen (HLA) e l’individuazione di malattie genetiche ad esordio tardivo. Dai reports relativi all’uso della PGD nel mondo emergono, tuttavia, tre punti critici: il primo riguarda l’esattezza diagnostica, con la presenza di falsi positivi e falsi negativi; la seconda, la notevole perdita di embrioni umani nel processo; la terza, i risultati della PGD in termini di nascita di bambini sani. ---------- The preimplantation genetic diagnosis (PGD) is a technique in which early human embryos, obtained in vitro for artificial fertilization techniques, are genetically screened for selection, through study of one or two blastomeres taken by biopsy. The embryos, that are healthy, are transferred to uterus. The PGD has been introduced in the early 1990s as an alternative to prenata1 diagnosis for couples at high risk of transmitting a genetic defect. It has been subsequently extended to other indications as the individualization of chromosomal abnormalities, the research of the aneuploidies, the “social selection of sex”, the selection of the embryos according to the type of Human Leukocit Antigen (HLA) and the individualization of late-onset genetic diseases. But the reports concerning with the use of PGD in the world make clear that there are three critical points: the first deals with the diagnostic accuracy, with the presence of false positives and false negatives; the second, with the wide loss of embryos during the process; the third, with the outcomes of the PGD in terms of birth of healthy babies.

scholarly journals Role of Preimplantation Genetic Diagnosis (PGD) in Current Infertility Practice

2010 ◽  
Vol 1 (1) ◽  
pp. 1-10 ◽  
Author(s):  
Helen Ghislaine Tempest ◽  
Joe Leigh Simpson
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Clinical Trial Data ◽  
Preimplantation Embryos ◽  
Novel Technologies ◽  
Chromosome Translocations ◽  
Chromosome Imbalances

ABSTRACT Chromosome imbalances are the leading cause of pregnancy loss in humans and play major roles in male and female infertility. Within the past two decades, the development and application of preimplantation genetic diagnosis (PGD) has played an important role in infertility practices worldwide. The purpose of this review is to discuss, how PGD may be applied in combating numerical chromosomal abnormalities and in Robertsonian and reciprocal chromosome translocations. We shall consider prevalence and risk of each aberration, interchromosomal effects and rationale behind use of PGD in each case. Numerical chromosome abnormalities (aneuploidy and polyploidy) in particular affect a very high proportion of preimplantation embryos (~ 50%). Given that a majority of preimplantation embryos are aneuploid, PGD can be used to screen embryos and transfer euploid embryos to improve pregnancy rates and reduce spontaneous abortions. The rationale of utilize PGD to transfer only euploid embryos would seem sound, but controversies exist surrounding application of PGD for aneuploidy detection. To this end, we will discuss the dichotomy between favorable descriptive reports and less favorable randomized clinical trial data. This review will discuss the trend towards differing sources of embryonic DNA (e.g. polar body vs blastomere vs blastocyst) as well as development of novel technologies for 24 chromosomes analysis.

scholarly journals Preimplantation Genetic Diagnosis—An Overview

2005 ◽  
Vol 53 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Peter R. Braude ◽  
Paul N. Scriven
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Success Rates ◽  
Aneuploidy Screening ◽  
Reciprocal Translocations ◽  
Public Controversy ◽  
Polar Bodies ◽  
Monogenic Diseases

Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed. Couples with chromosome rearrangements such as Robertsonian and reciprocal translocations form a large referral group for most PGD centers and present a special challenge, due to the large number of genetically unbalanced embryos generated by meiotic segregation. Early protocols used blastomeres biopsied from cleavage-stage embryos; testing of first and second polar bodies is now a routine alternative, and blastocyst biopsy can also be used. More recently, the technology has been harnessed to provide PGD-AS, or aneuploidy screening. FISH probes specific for chromosomes commonly found to be aneuploid in early pregnancy loss are used to test blastomeres for aneuploidy, with the aim of replacing euploid embryos and increasing pregnancy rates in groups of women who have poor IVF success rates. More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye.

Developmental potential of embryos after 1 to 3 biopsy procedures for preimplantation genetic diagnosis (PGD)

2004 ◽  
Vol 82 ◽  
pp. S30 ◽  
Author(s):  
J. Cieslak ◽  
Y. Ilkevitch ◽  
A. Bernal ◽  
S. Rechitsky ◽  
I. Tur-Kaspa ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Developmental Potential

Sample preparations are important for fluorescence in situ hybridization of cells biopsied from preimplantation embryos

Zygote ◽  
2013 ◽  
Vol 22 (3) ◽  
pp. 300-304
Author(s):  
Lifei Li ◽  
Xuehong Zhang ◽  
Weihua Wang
Keyword(s):  
Sample Preparation ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Preimplantation Embryos ◽  
Human Embryos ◽  
Fixation Time ◽  
Preparation Technique ◽  
Hypotonic Solution ◽  
Modified Method

SummaryFluorescence in situ hybridization (FISH) is a cytogenetic technology used to detect chromosomal abnormalities in preimplantation human embryos. However, its efficiency is not stable due to improper sample preparation. The present study was designed to modify the current sample preparation technique and then to evaluate its efficiency in human preimplantation genetic diagnosis (PGD). Day 3 cleavage embryos as well as day 5 and 6 blastocysts were biopsied by mechanical aspiration method. In the present study, two methods were used for sample preparation of the biopsied cells. Method I was the traditional method, in which each blastomere was placed in a hypotonic solution for 5 min and then fixed on glass slides. The slides were kept at room temperature before the FISH procedures. Method II was a modified method, in which all blastomeres were placed individually in hypotonic solution drops covered by oil for at least 5 min and then fixed on slides with 0.1% Tween/HCl. After fixation, the slides were kept at –20°C for at least 30 min before the FISH procedures. The two methods were compared in terms of time consumption and proportions of blastomeres with FISH signals. In total, 329 blastomeres from day 3 embryos were fixed by Method I with an average fixation time of 8–10 min for each blastomere. By contrast, with Method II, 362 blastomeres were fixed and the average time was 3–4 min for each blastomere. After FISH, more nuclei had signals with Method II (97.2%) than with Method I (86.9%). All cells that were biopsied from blastocysts and prepared with Method II had FISH signals. However, Method I was not suitable for the fixation of multiple cells biopsied from blastocysts as cells were not traceable during the fixation. The present study indicates that proper sample preparation is critical for obtaining FISH signals in cells biopsied from preimplantation human embryos; hence these modifications can increase the efficiency of human PGD.

Advantages of multiple markers and polar body analysis in preimplantation genetic diagnosis for Alagille disease

2007 ◽  
Vol 27 (4) ◽  
pp. 317-321 ◽  
Author(s):  
P. Renbaum ◽  
B. Brooks ◽  
Y. Kaplan ◽  
T. Eldar-Geva ◽  
E J. Margalioth ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Multiple Markers ◽  
Polar Body Analysis
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